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GENATLAS PHENOTYPE

last update : 05-01-2015

Symbol	BMKS
Location	18q23
Name	Burn-McKeown syndrome
Corresponding gene	TXNL4A
Main clinical features	bilateral choanal atresia and a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids, and a characteristic dysmorphic appearance, but normal development additional features, including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney
Genetic determination	autosomal dominant
Function/system disorder	ear
	eye
	kidney and urinary tract
Type	disease

Remark(s)